Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency causes difficulty for the body to convert certain fats into energy. People with LCHAD may present during infancy or early childhood with feeding difficulties, lethargy, low blood sugar, weak muscle tone, liver problems, and vision problems.
As they get older, children with LCHAD are at risk of muscle pain, breakdown of muscle tissue, loss of sensation in their arms and legs, developmental delay, weak heart muscles, breathing problems, coma and sudden death.
Illness, infection or periods of not eating can trigger the symptoms of LCHAD. Early initiation of treatment can delay onset and reduce the severity of the symptoms.
As humans we have about 23,000 genes. These genes are like tiny instruction manuals that influence our health, growth and development. We inherit half of our genes from our biological mum and the other half from our biological dad. These genes are lined up on structures called chromosomes. Most of us have 23 pairs of chromosomes. The first 22 pairs are called autosomes and for the most part - these are the same among men and women. The 23rd pair determine our sex - two X chromosomes for a female and one X and one Y chromosome for males.
long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is known as an autosomal recessive condition. For autosomal recessive conditions, if a person has a variation in one copy of their gene, they are a carrier. This means that they are healthy because they also have a working copy of the gene. But, they can still pass their non-working copy to their child.
If the other parent also happens to be a carrier of the same gene, there is a 25% (1 in 4) chance that they both pass this gene variation on to their child — and as such, have a child affected by the disease.
If both parents are carriers of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, there’s a one in four chance that their children could develop symptoms.
Carrier testing is like a checkup for your genes. It tests to see if you carry a gene variation that could cause a serious genetic disease in your child. Eugene offers an inclusive genetic carrier screening panel that includes long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, but there's a total 301 conditions that can be tested.
Eugene’s carrier test is a clinical grade test that can be done from the comfort of your own home — it’s just a saliva test. You're also paired with a genetic counsellor who provides mindful support and guidance every step of the way.Learn more about carrier screening
The biggest benefit of screening for long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is that it can help future parents understand their reproductive risk so they can be ready and empowered to make more informed decisions. If neither partner are carriers, it provides reassurance and peace of mind that the risk of having a child with a genetic disease is low.
Since 90% of children that have a recessive genetic disease like long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency had no previous family history of it, it often feels completely out of the blue for the parents. Getting screened is a way to know this risk in advance, which can help familes manage or even prevent the disease in the first place.